Overview
Pachyonychia congenita (PC) is a rare genetic disorder of keratinization that primarily affects the nails, skin, oral mucosa, and other ectodermal tissues. It is caused by mutations in genes encoding keratin proteins (KRT6A, KRT6B, KRT6C, KRT16, and KRT17) that are essential for the structural integrity of epithelial cells. The condition was historically classified into two main types — PC-1 (Jadassohn-Lewandowsky type) and PC-2 (Jackson-Lawler type) — but is now more commonly categorized by the specific gene affected (e.g., PC-K6a, PC-K6b, PC-K16, PC-K17). The hallmark features of pachyonychia congenita include severely thickened and dystrophic nails (pachyonychia), painful plantar keratoderma (thickened skin on the soles of the feet that can be extremely debilitating and is often considered the most burdensome symptom), oral leukokeratosis (white plaques on the oral mucosa), and follicular keratoses (bumps around hair follicles). Additional features may include palmar keratoderma, cysts (including steatocystomas and pilosebaceous cysts), hyperhidrosis (excessive sweating) of the palms and soles, and natal or prenatal teeth. The plantar pain associated with PC can be severe enough to significantly impair mobility and quality of life, often requiring the use of assistive devices. There is currently no cure for pachyonychia congenita. Treatment is symptomatic and supportive, focusing on management of pain and reduction of thickened skin and nails. Approaches include careful mechanical debridement of thickened nails and calluses, use of topical keratolytics, pain management strategies, and appropriate footwear modifications. Research into targeted therapies, including small interfering RNA (siRNA) approaches aimed at silencing the mutant keratin allele, has shown promise in clinical studies. The International Pachyonychia Congenita Consortium (IPCC) and the patient advocacy organization PC Project maintain registries and support ongoing research efforts.
Also known as:
Clinical phenotype terms— hover any for plain English:
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
FDA & Trial Timeline
3 eventsAssistance Publique - Hôpitaux de Paris — PHASE3
Palvella Therapeutics, Inc. — PHASE3
Pachyonychia Congenita Project
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Pachyonychia congenita.
2 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Rare Disease Specialist
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Pachyonychia congenita.
Community
No community posts yet. Be the first to share your experience with Pachyonychia congenita.
Start the conversation →Latest news about Pachyonychia congenita
Disease timeline:
New trial: Efficacy and Safety of Bezafibrate 400 mg and Bezafibrate 200 mg as Adjunctive Treatments in Patient
Phase PHASE3 trial recruiting. Bezafibrate 400 mg in addition to UDCA therapy
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Common questions about Pachyonychia congenita
What is Pachyonychia congenita?
Pachyonychia congenita (PC) is a rare genetic disorder of keratinization that primarily affects the nails, skin, oral mucosa, and other ectodermal tissues. It is caused by mutations in genes encoding keratin proteins (KRT6A, KRT6B, KRT6C, KRT16, and KRT17) that are essential for the structural integrity of epithelial cells. The condition was historically classified into two main types — PC-1 (Jadassohn-Lewandowsky type) and PC-2 (Jackson-Lawler type) — but is now more commonly categorized by the specific gene affected (e.g., PC-K6a, PC-K6b, PC-K16, PC-K17). The hallmark features of pachyonych
How is Pachyonychia congenita inherited?
Pachyonychia congenita follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Pachyonychia congenita typically begin?
Typical onset of Pachyonychia congenita is neonatal. Age of onset can vary across affected individuals.
Are there clinical trials for Pachyonychia congenita?
Yes — 2 recruiting clinical trials are currently listed for Pachyonychia congenita on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Pachyonychia congenita?
7 specialists and care centers treating Pachyonychia congenita are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.